Results 81 to 90 of about 26,178 (244)

Impact of Major Congenital Malformation Algorithms on Their Prevalence in Large Population‐Based Mother–Child Cohorts

open access: yesPaediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital malformations (MCM) affect 2%–6% of pregnancies globally. Identifying MCM using real‐world data is essential, but various definitions exist with differing performances and case ascertainment criteria, limiting collaborations.
Gabra Nohmie   +3 more
wiley   +1 more source

Risk Factors for hypospadias in Northwest Russia: A Murmansk County Birth Registry Study.

open access: yesPLoS ONE, 2019
BackgroundHypospadias is the most common congenital anomaly of the penis, but its causes are mainly unknown. Of the risk factors identified, the most plausible are hormonal and genetic.
Anton A Kovalenko   +5 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Acute postoperative complications of hypospadias repair

open access: yesIndian Journal of Urology, 2008
Purpose: Complications in hypospadias surgery are higher than other reconstructive procedures. The incidence of complications can be reduced if proper preventive measures are taken. The review aims to highlight incidences, causes, and preventive measures
Amilal Bhat, Arup Kumar Mandal
doaj   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

open access: yesJIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen   +43 more
wiley   +1 more source

Langerhans cells in hypospadias: an analysis of Langerin (CD207) and HLA-DR on epidermal sheets and full thickness skin sections

open access: yesBMC Urology, 2019
Background Hypospadias are among the most common genital malformations. Langerhans Cells (LCs) play a pivotal role in HIV and HPV infection. The migration of LC precursors to skin coincides with the embryonic period of hypospadias development and genetic
Bernhard Haid   +7 more
doaj   +1 more source

Growing Up Toxic: Chemical Exposures and Increases in Developmental Disease [PDF]

open access: yes, 2011
Explains how exposure to toxic chemicals can harm health and impair development, causing premature birth, learning disabilities, behavioral disorders, asthma and allergies, and/or other problems.
Elizabeth Hitchcock, Travis Madsen
core  

Clinical results of one-stage urethroplasty with parameatal foreskin flap for hypospadias. [PDF]

open access: yes, 2005
We investigated the usefulness of one-stage urethroplasty by the parameatal foreskin flap method (OUPF procedure), which is useful for repairing all types of hypospadias.
Kumon, Hiromi   +5 more
core   +1 more source

The Analgesic Effect of Extended Reality (XR) on Acute and Postoperative Pain in Children: A Systematic Review and Meta‐Analysis

open access: yesPediatric Anesthesia, Volume 36, Issue 5, Page 479-490, May 2026.
ABSTRACT Background Acute and postoperative pain in children is often undertreated, with effects on patient comfort and postoperative recovery. Extended reality (XR) interventions offer non‐pharmacological pain management by distracting patients from discomfort.
Louise Meulenkamp‐Yilmaz   +5 more
wiley   +1 more source

A Potential Pathogenic SRD5A2 Mutation and rs632148, rs523349 and rs522638 Polymorphisms in Increasing the Risk of Syndromic Hypospadias in Indonesian Population

open access: yesIndonesian Biomedical Journal
BACKGROUND: Hypospadias, a congenital birth defect in male, is the opening of the urethra located on the ventral side of the penis. Several mutations in SRD5A2 encoding steroid 5 alpha-reductase type 2 protein have been identified in hypospadias and ...
Rizki Diposarosa   +3 more
doaj   +1 more source

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